Fukutin-related protein (FKRP) is a glycosyltransferase involved in the functional glycosylation of α-dystroglycan (DG), a key component in the link between the cytoskeleton and the extracellular matrix (ECM). Mutations in FKRP lead to dystroglycanopathies with broad severity, including limb-girdle and congenital muscular dystrophy. Studies over the past 5 years have elucidated the function of FKRP, which has expanded the number of therapeutic opportunities for patients carrying FKRP mutations. These include small molecules, gene delivery, and cell therapy. Here we summarize recent findings on the function of FKRP and describe available models for studying diseases and testing therapeutics. Lastly, we highlight preclinical studies that hold potential for the treatment of FKRP-associated dystroglycanopathies.

Fukutin 相关蛋白 (FKRP) 是一种糖基转移酶，参与 α-dystroglycan (DG) 的功能性糖基化，它是细胞骨架和细胞外基质 (ECM) 之间联系的关键成分。FKRP突变导致严重程度广泛的肌营养不良症，包括肢带和先天性肌营养不良症。过去 5 年的研究阐明了 FKRP 的功能，这为携带FKRP的患者增加了治疗机会突变。这些包括小分子、基因传递和细胞疗法。在这里，我们总结了关于 FKRP 功能的最新发现，并描述了用于研究疾病和测试治疗方法的可用模型。最后，我们强调了具有治疗 FKRP 相关肌营养不良症的潜力的临床前研究。